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Genes|November 25, 2023
When Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous MastocytosisEmilian-Gheorghe Olteanu, Mihaela Bataneant, Maria Puiu, et al.
Journal of Clinical Immunology|June 29, 2026
Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III DeficiencyDavid M Matea, Smaranda T Arghirescu, Adela Chirita-Emandi, et al.
International Journal of Molecular Sciences|February 27, 2026
Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T VariantCristina-Loredana Pantea, Mihaela Bataneant, Cristian G Zimbru, et al.
Scientific Reports|May 29, 2025
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencingCristina-Loredana Pantea, Mihaela Bataneant, Cristian G Zimbru, et al.
European Journal of Haematology|August 2, 2014
A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein geneVera Gulácsy, Beáta Soltész, Carmen Petrescu, et al.
Frontiers in Genetics|April 25, 2022
Case Report: Novel Biallelic Variants in <i>DNAJC21</i> Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to DiagnosisAdela Chirita-Emandi, Carmen-Angela-Maria Petrescu, Cristian G Zimbru, et al.
International Journal of Molecular Sciences|May 4, 2026
Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical CorrelationsCristina-Loredana Pantea, Mihaela Bataneant, Ciprian Jurcut, et al.
Frontiers in Immunology|January 6, 2023
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021Hassan Abolhassani, Tadej Avcin, Nerin Bahceciler, et al.
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